Delta power robustly predicts cognitive function in Angelman syndrome

Autor: Elizabeth R. Spencer, Lynne M. Bird, Lauren M. Ostrowski, Ronald L. Thibert, Mark A. Kramer, Catherine J. Chu, Robert W. Komorowski
Rok vydání: 2021
Předmět:
Adult
Male
0301 basic medicine
medicine.medical_specialty
Adolescent
Ubiquitin-Protein Ligases
Clinical Sciences
Neurosciences. Biological psychiatry. Neuropsychiatry
Audiology
Electroencephalography
Bayley Scales of Infant Development
Young Adult
03 medical and health sciences
Cognition
0302 clinical medicine
Neurodevelopmental disorder
Predictive Value of Tests
Angelman syndrome
UBE3A
Humans
Medicine
Premovement neuronal activity
Child
RC346-429
Research Articles
medicine.diagnostic_test
business.industry
General Neuroscience
Neurosciences
Infant
medicine.disease
030104 developmental biology
Delta Rhythm
Child
Preschool
Biomarker (medicine)
Female
Neurology. Diseases of the nervous system
Neurology (clinical)
Angelman Syndrome
business
030217 neurology & neurosurgery
Research Article
RC321-571
Zdroj: Annals of clinical and translational neurology, vol 8, iss 7
Annals of Clinical and Translational Neurology, Vol 8, Iss 7, Pp 1433-1445 (2021)
Annals of Clinical and Translational Neurology
ISSN: 2328-9503
DOI: 10.1002/acn3.51385
Popis: Author(s): Ostrowski, Lauren M; Spencer, Elizabeth R; Bird, Lynne M; Thibert, Ronald; Komorowski, Robert W; Kramer, Mark A; Chu, Catherine J | Abstract: ObjectiveAngelman syndrome (AS) is a severe neurodevelopmental disorder caused by loss of function of the maternally inherited UBE3A gene in neurons. Promising disease-modifying treatments to reinstate UBE3A expression are under development and an early measure of treatment response is critical to their deployment in clinical trials. Increased delta power in EEG recordings, reflecting abnormal neuronal synchrony, occurs in AS across species and correlates with genotype. Whether delta power provides a reliable biomarker for clinical symptoms remains unknown.MethodsWe analyzed combined EEG recordings and developmental assessments in a large cohort of individuals with AS (Nn=n82 subjects, 133 combined EEG and cognitive assessments, 1.08-28.16nyears; 32F) and evaluated delta power as a biomarker for cognitive function, as measured by the Bayley Cognitive Score. We examined the robustness of this biomarker to varying states of consciousness, recording techniques and analysis procedures.ResultsDelta power predicted the Bayley Scale cognitive score (Pnln10-5 , R2 n=n0.9374) after controlling for age (Pnln10-24 ), genotype:age (Pnln10-11 ), and repeat assessments (Pnln10-8 ), with the excellent fit on cross validation (R2 n=n0.95). There were no differences in model performance across states of consciousness or bipolar versus average montages (ΔAICnln2). Models using raw data excluding frontal channels outperformed other models (ΔAICngn4) and predicted performance in expressive (Pn=n0.0209) and receptive communication (Pnln10-3 ) and fine motor skills (Pnln10-4 ).InterpretationDelta power is a simple, direct measure of neuronal activity that reliably correlates with cognitive function in AS. This electrophysiological biomarker offers an objective, clinically relevant endpoint for treatment response in emerging clinical trials.
Databáze: OpenAIRE
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